COQ5[gene] and "single gene"[properties] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 978826	NC_000012.12:g.120502295_120511884dup	COQ5	Duplication	Coenzyme q10 deficiency, primary, 9	GPathogenic
Select item 2601514	NM_032314.4(COQ5):c.934G>A (p.Glu312Lys)	COQ5 (E312K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 756765	NM_032314.4(COQ5):c.870G>A (p.Arg290=)	COQ5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2313919	NM_032314.4(COQ5):c.842A>T (p.Tyr281Phe)	COQ5 (Y281F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 742153	NM_032314.4(COQ5):c.771-6G>A	COQ5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2532533	NM_032314.4(COQ5):c.756T>A (p.Asn252Lys)	COQ5 (N252K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599513	NM_032314.4(COQ5):c.722G>A (p.Arg241Gln)	COQ5 (R241Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 871736	NM_032314.4(COQ5):c.611C>A (p.Pro204His)	COQ5 (P204H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2307271	NM_032314.4(COQ5):c.596A>T (p.Asp199Val)	COQ5 (D199V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768593	NM_032314.4(COQ5):c.575-7C>G	COQ5	Single nucleotide variant (intron variant)	COQ5-related disorder +1 more	GBenign
Select item 2544276	NM_032314.4(COQ5):c.520A>C (p.Lys174Gln)	COQ5 (K174Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522235	NM_032314.4(COQ5):c.497G>A (p.Arg166His)	COQ5 (R166H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2599838	NM_032314.4(COQ5):c.496C>T (p.Arg166Cys)	COQ5 (R166C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076326	NM_032314.4(COQ5):c.491G>A (p.Gly164Glu)	COQ5 (G164E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076325	NM_032314.4(COQ5):c.481T>C (p.Ser161Pro)	COQ5 (S161P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2265476	NM_032314.4(COQ5):c.461A>C (p.Glu154Ala)	COQ5 (E154A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790131	NM_032314.4(COQ5):c.395A>G (p.His132Arg)	COQ5 (H132R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 871737	NM_032314.4(COQ5):c.353G>A (p.Gly118Asp)	COQ5 (G118D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3035335	NM_032314.4(COQ5):c.352+8C>T	COQ5	Single nucleotide variant (intron variant)	COQ5-related disorder	GLikely benign
Select item 3053215	NM_032314.4(COQ5):c.333T>G (p.Leu111=)	COQ5	Single nucleotide variant (synonymous variant)	COQ5-related disorder	GLikely benign
Select item 2672526	NM_032314.4(COQ5):c.314T>C (p.Leu105Pro)	COQ5 (L105P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3060152	NM_032314.4(COQ5):c.312G>A (p.Pro104=)	COQ5	Single nucleotide variant (synonymous variant)	COQ5-related disorder	GBenign
Select item 1335120	NM_032314.4(COQ5):c.267T>C (p.Gly89=)	COQ5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2363151	NM_032314.4(COQ5):c.261T>G (p.Ser87Arg)	COQ5 (S87R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076324	NM_032314.4(COQ5):c.251A>G (p.Asp84Gly)	COQ5 (D84G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285644	NM_032314.4(COQ5):c.181G>A (p.Glu61Lys)	COQ5 (E61K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3026809	NM_032314.4(COQ5):c.156G>T (p.Thr52=)	COQ5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3076322	NM_032314.4(COQ5):c.100C>T (p.Pro34Ser)	COQ5 (P34S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531012	NM_032314.4(COQ5):c.86T>C (p.Leu29Pro)	COQ5 (L29P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460821	NM_032314.4(COQ5):c.31A>C (p.Ser11Arg)	COQ5 (S11R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 727118	NM_032314.4(COQ5):c.16A>G (p.Ser6Gly)	COQ5 (S6G)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3076323	NM_032314.4(COQ5):c.13G>A (p.Gly5Arg)	COQ5 (G5R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2310731	NM_032314.4(COQ5):c.10C>T (p.Pro4Ser)	COQ5 (P4S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 33